Kriplani Alka, Agarwal Nutan, Sharma Meharchand C, Manchanda Ranjit
Department of Obstetrics and Gynecology, All India Institute of Medical Sciences, New Delhi, India.
J Obstet Gynaecol Res. 2003 Apr;29(2):63-6. doi: 10.1046/j.1341-8076.2003.00028.x.
A wide spectrum of phenotypic manifestations are seen in cases with 45X/46XY mosaicism. We present a case with 45X/46XY having female phenotype with Turner's stigmata. Prophylactic laparoscopic gonadectomy was performed and the patient was found to have mixed gonadal dysgenesis with bilateral gonadoblastomas. Microinvasive seminomas were also detected in both gonadoblastomas. The presence of Y cell line in karyotype prompted early and prophylactic gonadectomy, a procedure which is life-saving for these individuals.
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